ODCs

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Monosomy 13q14

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Hypocalcemic vitamin D-resistant rickets

2 OMIM references -
1 associated gene
29 signs/symptoms

Monosomy 13q14

Hypocalcemic vitamin D-resistant rickets

RB1

(UniProt - OMIM)

VDR

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RB1	(0.75)	VDR

Citations in the biomedical literature:

Monosomy 13q14		Hypocalcemic vitamin D-resistant rickets
	Synonym(s): - Del(13)(q14) - Deletion 13q14 syndrome		Synonym(s): - HVDRR - Hereditary vitamin D-resistant rickets - VDDR II - VDRR II - Vitamin D-dependent rickets type II - Vitamin D-resistant rickets type II

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Short stature / dwarfism / nanism

Monosomy 13q14		Hypocalcemic vitamin D-resistant rickets
	Very frequent - Broad nose / nasal bridge - Helix thickened / sculpted - High nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Total / partial trisomy / duplication Frequent - Abnormal dermatoglyphics - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cataract / lens opacification - Clinodactyly of fifth finger - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypotonia - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Ptosis - Retinoblastoma - Short hand / brachydactyly - Short neck - Syndactyly of fingers / interdigital palm - Trigonocephaly Occasional - Anus / rectum anomalies - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Thumb hypoplasia / aplasia / absence - Webbed neck / pterygium colli		Very frequent - Anomalies of bones / skeletal anomalies - Autosomal recessive inheritance - Bone cyst - Bone pain - Hyperparathyroidy - Hypocalcemia - Hypophosphatemia - Joint / articular deformation - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rough trabeculation of bone Frequent - Abnormal fat distribution / lipodystrophy - Abnormal gait - Abnormal vertebral size / shape - Alopecia - Anomalies of chest / thorax / trunk - Anomalies of skin, subcutaneous tissue and mucosae - Dolichocephaly / scaphocephaly - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Premature lost of decidious teeth - Urinary / renal lithiasis / kidney stones / nephritic colic Occasional - Anomalies of teeth and dentition - Frontal bossing / prominent forehead - Genu valgum - Scoliosis